Canonical Allele Identifier: CA346672794

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44170919G>A (hg19) ; chr2:g.43943780G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43943780G>A , CM000664.2:g.43943780G>A	GRCh38
NC_000002.11:g.44170919G>A , CM000664.1:g.44170919G>A	GRCh37
NC_000002.10:g.44024423G>A	NCBI36
NG_008247.1:g.57226C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000409659.6:c.2411C>T	ENSP00000386562.2:p.Thr804Ile
ENST00000447246.2:c.2411C>T	ENSP00000403637.2:p.Thr804Ile
ENST00000681961.1:n.2431C>T
ENST00000682104.1:c.2285C>T	ENSP00000507716.1:p.Thr762Ile
ENST00000682303.1:c.*2197C>T	ENSP00000508325.1:n.*2197C>T
ENST00000682308.1:c.2411C>T	ENSP00000507056.1:p.Thr804Ile
ENST00000682480.1:c.2411C>T	ENSP00000508344.1:p.Thr804Ile
ENST00000682546.1:c.2408C>T	ENSP00000508188.1:p.Thr803Ile
ENST00000682585.1:c.2411C>T	ENSP00000506885.1:p.Thr804Ile
ENST00000682595.1:n.2993C>T
ENST00000682607.1:c.829C>T
ENST00000682779.1:c.2402C>T	ENSP00000507947.1:p.Thr801Ile
ENST00000682845.1:n.1513C>T
ENST00000682885.1:c.2366C>T	ENSP00000508036.1:p.Thr789Ile
ENST00000682933.1:n.2485C>T
ENST00000683072.1:n.2993C>T
ENST00000683125.1:c.2411C>T	ENSP00000507939.1:p.Thr804Ile
ENST00000683213.1:c.2414C>T	ENSP00000507751.1:p.Thr805Ile
ENST00000683220.1:c.2441C>T	ENSP00000507151.1:p.Thr814Ile
ENST00000683329.1:n.3214C>T
ENST00000683346.1:c.*2286C>T	ENSP00000507458.1:n.*2286C>T
ENST00000683459.1:n.2998C>T
ENST00000683590.1:c.2411C>T	ENSP00000506820.1:p.Thr804Ile
ENST00000683623.1:c.2318C>T	ENSP00000507702.1:p.Thr773Ile
ENST00000683645.1:n.2962C>T
ENST00000683694.1:n.1162C>T
ENST00000683796.1:c.*2283C>T	ENSP00000508221.1:n.*2283C>T
ENST00000683802.1:n.5336C>T
ENST00000683833.1:c.2402C>T	ENSP00000506852.1:p.Thr801Ile
ENST00000683989.1:c.2411C>T	ENSP00000507510.1:p.Thr804Ile
ENST00000683994.1:c.2411C>T	ENSP00000507181.1:p.Thr804Ile
ENST00000684290.1:c.*105C>T	ENSP00000507243.1:n.*105C>T
ENST00000684306.1:c.*2324C>T	ENSP00000508384.1:n.*2324C>T
ENST00000684341.1:n.2431C>T
ENST00000684383.1:c.*2049C>T	ENSP00000506863.1:n.*2049C>T
ENST00000684397.1:c.115C>T
ENST00000684619.1:c.*2283C>T	ENSP00000508088.1:n.*2283C>T
ENST00000684743.1:n.3442C>T
ENST00000260665.12:c.2411C>T MANE Select	ENSP00000260665.7:p.Thr804Ile
ENST00000260665.11:c.2411C>T	ENSP00000260665.7:p.Thr804Ile
NM_133259.3:c.2411C>T	NP_573566.2:p.Thr804Ile
XM_006711915.2:c.2333C>T	XP_006711978.1:p.Thr778Ile
XM_006711916.2:c.2411C>T	XP_006711979.1:p.Thr804Ile
XM_011532473.1:c.2411C>T	XP_011530775.1:p.Thr804Ile
XM_011532474.1:c.2411C>T	XP_011530776.1:p.Thr804Ile
XM_006711916.3:c.2411C>T	XP_006711979.1:p.Thr804Ile
XM_017003117.1:c.2333C>T	XP_016858606.1:p.Thr778Ile
XR_002958896.1:n.2453C>T
NM_133259.4:c.2411C>T MANE Select	NP_573566.2:p.Thr804Ile